Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.V205G
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GATA1

NM_002049.4:p.V205G

Associated Papers

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 2024

Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome.

Grimm J et al.

Frontiers in Oncology, 2021

Two Isoforms of serpent Containing Either One or Two GATA Zinc Fingers Provide Functional Diversity During Drosophila Development.

Moussalem D et al.

Frontiers in Cell and Developmental Biology, 2021

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.

Wijgaerts A et al.

Haematologica, 2017

Erythropoietin and IGF-1 signaling synchronize cell proliferation and maturation during erythropoiesis.

Kadri Z et al.

Genes & Development, 2015

Epigenetic and genetic mechanisms in red cell biology.

Hewitt KJ et al.

Current Opinion in Hematology, 2014

Transcriptional mechanisms underlying hemoglobin synthesis.

Katsumura KR et al.

Cold Spring Harbor Perspectives in Medicine, 2013

Cofactor-mediated restriction of GATA-1 chromatin occupancy coordinates lineage-specific gene expression.

Chlon TM et al.

Molecular Cell, 2012

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies.

Bresnick EH et al.

Nucleic Acids Research, 2012

Mouse models of diseases of megakaryocyte and platelet homeostasis.

Carmichael CL et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011

Controlling hematopoiesis through sumoylation-dependent regulation of a GATA factor.

Lee HY et al.

Molecular Cell, 2009

Direct binding of pRb/E2F-2 to GATA-1 regulates maturation and terminal cell division during erythropoiesis.

Kadri Z et al.

Plos Biology, 2009

Haem-regulated eIF2alpha kinase is necessary for adaptive gene expression in erythroid precursors under the stress of iron deficiency.

Liu S et al.

British Journal of Haematology, 2008

Identification of ZBP-89 as a novel GATA-1-associated transcription factor involved in megakaryocytic and erythroid development.

Woo AJ et al.

Molecular and Cellular Biology, 2008

Cyclin D-Cdk4 is regulated by GATA-1 and required for megakaryocyte growth and polyploidization.

Muntean AG et al.

Blood, 2007

FOG-1 represses GATA-1-dependent FcepsilonRI beta-chain transcription: transcriptional mechanism of mast-cell-specific gene expression in mice.

Maeda K et al.

Blood, 2006

Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development.

Muntean AG et al.

Blood, 2005

FOG-1 recruits the NuRD repressor complex to mediate transcriptional repression by GATA-1.

Hong W et al.

The Embo Journal, 2005

Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1.

Li Z et al.

Nature Genetics, 2005

GATA transcription factors in hematologic disease.

Cantor AB

International Journal of Hematology, 2005

Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins.

Cantor AB et al.

Seminars in Cell & Developmental Biology, 2005

GATA1 in normal and malignant hematopoiesis.

Crispino JD

Seminars in Cell & Developmental Biology, 2005

Transgenic over-expression of GATA-1 mutant lacking N-finger domain causes hemolytic syndrome in mouse erythroid cells.

Nakano M et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2005

Transgenic rescue of GATA-1-deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia.

Shimizu R et al.

Blood, 2004

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.

Yu C et al.

Blood, 2002

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome.

Wechsler J et al.

Nature Genetics, 2002

Essential and instructive roles of GATA factors in eosinophil development.

Hirasawa R et al.

The Journal of Experimental Medicine, 2002

Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors.

Crispino JD et al.

Genes & Development, 2001

Use of altered specificity mutants to probe a specific protein-protein interaction in differentiation: the GATA-1:FOG complex.

Crispino JD et al.

Molecular Cell, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."